HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_000137.2:c.615del
RefSeqGene (:g.) NG_012833.1:g.24159del
Predicted effect on protein (:p.) NP_000128.1:p.(Phe205LeufsTer2)
Predicted effect on protein (:p.) NP_000128.1:p.(F205Lfs*2)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000015.10:g.80172157del GRCh38:15:80172150:CT:C
NC_000015.9:g.80464499del GRCh37:15:80464492:CT:C

Recommended variant descriptions

View recommended variant descriptions in UCSC Genome Browser

  1. We recommend using a genomic and a transcript description in all publications
  2. We currently recommend that RefSeqGene descriptions should be used when possible

Genomic descriptions

Reference sequence type Variant description
RefSeqGene NG_012833.1:g.24159del
Chromosomal GRCh38 NC_000015.10:g.80172157del

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_000137.2:c.615del

Transcript-level variants overlapping genome coordinates NC_000015.10:80172157


Genomic coordinates (VCF) with respect to genome build GRCh38

15-80172150-CT-C


Aggregated data sources and clinical significance

VariantValidator

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